scholarly journals Genetics and genomics: providing new opportunities for the translation of basic research to clinical care for cystic fibrosis

2008 ◽  
Vol 2 (1) ◽  
pp. 1-5
Author(s):  
Faten Zaibak ◽  
Robert Williamson
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Care ◽  
Basic Research ◽  
Genetics And Genomics

scholarly journals Diagnostic exome-based preconception carrier testing in consanguineous couples: results from the first 100 couples in clinical practice

2021 ◽  
Author(s):  
Suzanne C. E. H. Sallevelt ◽  
Alexander P. A. Stegmann ◽  
Bart de Koning ◽  
Crool Velter ◽  
Anja Steyls ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Rare Variants ◽  
Clinical Care ◽  
Carrier Testing ◽  
Carrier Status ◽  
Routine Diagnostics ◽  
Affected Offspring ◽  
Pathogenic Variants ◽  
Increased Risk ◽  
Genetics And Genomics

Abstract Purpose Consanguineous couples are at increased risk of being heterozygous for the same autosomal recessive (AR) disorder(s), with a 25% risk of affected offspring as a consequence. Until recently, comprehensive preconception carrier testing (PCT) for AR disorders was unavailable in routine diagnostics. Here we developed and implemented such a test in routine clinical care. Methods We performed exome sequencing (ES) for 100 consanguineous couples. For each couple, rare variants that could give rise to biallelic variants in offspring were selected. These variants were subsequently filtered against a gene panel consisting of ~2,000 genes associated with known AR disorders (OMIM-based). Remaining variants were classified according to American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines, after which only likely pathogenic and pathogenic (class IV/V) variants, present in both partners, were reported. Results In 28 of 100 tested consanguineous couples (28%), likely pathogenic and pathogenic variants not previously known in the couple or their family were reported conferring 25% risk of affected offspring. Conclusion ES-based PCT provides a powerful diagnostic tool to identify AR disease carrier status in consanguineous couples. Outcomes provided significant reproductive choices for a higher proportion of these couples than previous tests.

scholarly journals 217 Medical outcomes post transition of clinical care from a paediatric cystic fibrosis care model to an adult cystic fibrosis care model – an Irish perspective

2016 ◽  
Vol 15 ◽  
pp. S106
Author(s):  
K.P. Thornton ◽  
N.J. Ronan ◽  
C. Shortt ◽  
M. McCarthy ◽  
C. Fleming ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Care ◽  
Care Model ◽  
Medical Outcomes

Pharmacokinetics of Polymyxin B in Hospitalized Adults with Cystic Fibrosis

2021 ◽  
Author(s):  
Ryan L. Crass ◽  
Tamara Al Naimi ◽  
Bo Wen ◽  
Ernane Souza ◽  
Susan Murray ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Bacterial Infections ◽  
Clinical Care ◽  
Kidney Injury ◽  
Polymyxin B ◽  
Volume Of Distribution ◽  
Fixed Dose ◽  
Liquid Chromatography Mass Spectrometry ◽  
Software Analysis ◽  
Linear Elimination

Background: The optimal polymyxin B dosage needed to achieve an efficacy target of 50-100 mg·h/L when treating multi-drug-resistant bacterial infections in adult cystic fibrosis (CF) patients is unclear. The pharmacokinetics of intravenous polymyxin B were evaluated to better inform dosing. Methods: This was a prospective, observational pharmacokinetic (PK) study of nine CF adults receiving intravenous polymyxin B as part of usual clinical care. Doses preceding PK sampling ranged from 50-100 mg every 12 hours. Five PK samples were collected following the fourth or fifth dose and concentrations of polymyxin subcomponents, B1 and B2, were quantified using Liquid Chromatography Mass Spectrometry (LC-MS). Population PK (NONMEM® software) analysis was performed using pooled polymyxin B1+B2 concentrations. Results: Participants were Caucasian, predominantly male, with mean age and weight of 31 years (range 21-57 years) and 58.0kg (range 38.3-70.4kg), respectively. A 1-compartment zero-order infusion and linear elimination model adequately described the data with estimated clearance and volume of distribution, 2.09 L/hr and 12.7 L, respectively, corresponding to a 4.1 hour mean half-life (t 1/2 ). Although body weight was observed to influence the volume of distribution, a fixed dose of 75 mg every 12 hours was predicted to achieve the target steady-state exposure. Neurotoxicities were reported in all patients; acute kidney injury events in two patients. These events resolved within 2-4 days after discontinuing polymyxin B. Conclusions: Fixed maintenance dosing of polymyxin B without loading is predicted to achieve the targeted therapeutic exposure in CF adults. Treatment-limiting neurotoxicities are very common in this population.

scholarly journals Fulminant hepatitis B

2003 ◽  
Vol 60 (3) ◽  
pp. 353-360
Author(s):  
Milomir Djokic ◽  
Vesna Begovic ◽  
Radmila Rajic-Dimitrijevic ◽  
Rada Aleksic ◽  
Svetlana Popovic ◽  
...  
Keyword(s):  
Hepatic Failure ◽  
Fulminant Hepatitis ◽  
Clinical Care ◽  
Basic Research ◽  
Clinical Syndrome ◽  
Intensive Care Treatment ◽  
Therapeutic Modalities ◽  
Liver Function Impairment ◽  
Function Impairment ◽  
Therapeutic Measures

Fulminant hepatitis, or fulminant hepatic failure, is defined as a clinical syndrome of severe liver function impairment, which causes hepatic coma and the decrease in synthesizing capacity of liver, and develops within eight weeks of the onset of hepatitis. Several independent factors influence the survival of patients: age, the cause of liver disease, the degree and the duration of encephalopathy in relation to the onset of the disease, and the prevention of complications. Over the years many intensive treatments have been practiced. Liver transplantation is expensive, and patients who survive transplantation require life-long immunosupression, clinical care and complications management. Without transplantation fulminant hepatitis and hepatic failure might be completely recovered spontaneously, and the patient could expect a normal life. Two cases of fulminant B hepatitis with intensive care treatment, and their survival despite unfavorable prognosis are presented in this paper. The menagement of patients with fulminant hepatitis required intensive monitoring and therapeutic measures, including corticosteroids. The prognosis for survival without transplantation in fulminant hepatitis is limited by the measures of medical treatment and new specific therapeutic modalities which must be developed through basic research.

scholarly journals Home spirometry utilisation in telemedicine clinic for cystic fibrosis care during COVID-19 pandemic: a quality improvement process

2021 ◽  
Vol 10 (3) ◽  
pp. e001529
Author(s):  
Martina Compton ◽  
Rhonda List ◽  
Elissa Starheim ◽  
Lindsay Somerville ◽  
Lauren Williamson ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Quality Improvement ◽  
Chronic Care ◽  
Clinical Care ◽  
Forced Expiratory Volume ◽  
University Of Virginia ◽  
Care Model ◽  
Lung Function Decline ◽  
Quality Improvement Process ◽  
Care Guidelines

IntroductionThe Cystic Fibrosis (CF) Foundation chronic care guidelines recommend monitoring spirometry during quarterly multidisciplinary visits to identify early lung function decline. During the COVID-19 pandemic, the CF adult clinic at University of Virginia (UVA) transitioned from the classic CF care model to a model that included quarterly multidisciplinary telemedicine visits. While using telemedicine, CF care needed to include spirometry monitoring. Only a fraction of adult CF patients at UVA owned and used home spirometers (HS) in March 2020.AimThe specific aims of this quality improvement (QI) project were to increase the percentage of eligible adult CF patients who owned an HSs from 37% to 85% and to increase the percentage of adult CF patients seen at UVA with available spirometry in telemedicine from 50% to 95% by 31 December 2020.MethodsFollowing the Model for Improvement QI methodology, a standardised process was developed for monitoring forced expiratory volume in 1 s with HS during multidisciplinary telemedicine visits during the COVID-19 pandemic.Intervention(1) HSs were distributed to eligible patients and (2) Home spirometry was monitored in eligible patients with each telemedicine visit and results were used for clinical care decisions.ResultsBoth specific aims were achieved ahead of expected date. In March 2020, the beginning of the pandemic, 37% (49/131) of patients owned an HS and 50% (9/18) of patients seen via telemedicine performed spirometry at home. By September 2020, 97% (127/131) of adult patients at UVA owned an HS and by October 2020, 96% (24/25) of patients provided spirometry results during their telemedicine encounters.ConclusionEmploying QI tools to standardise the process of monitoring spirometry data with home devices via telemedicine is reliable and sustainable and can be replicated across centres that provide care for patients with CF.

scholarly journals MaizeGDB: The Maize Model Organism Database for Basic, Translational, and Applied Research

2008 ◽  
Vol 2008 ◽  
pp. 1-10 ◽  
Author(s):  
Carolyn J. Lawrence ◽  
Lisa C. Harper ◽  
Mary L. Schaeffer ◽  
Taner Z. Sen ◽  
Trent E. Seigfried ◽  
...  
Keyword(s):  
Model Organism ◽  
Basic Research ◽  
Model Organism Database ◽  
High Productivity ◽  
Group Activities ◽  
Food And Agriculture ◽  
Food And Agriculture Organization ◽  
Genetics And Genomics ◽  
Excellent Source ◽  
By Products

In 2001 maize became the number one production crop in the world with the Food and Agriculture Organization of the United Nations reporting over 614 million tonnes produced. Its success is due to the high productivity per acre in tandem with a wide variety of commercial uses. Not only is maize an excellent source of food, feed, and fuel, but also its by-products are used in the production of various commercial products. Maize's unparalleled success in agriculture stems from basic research, the outcomes of which drive breeding and product development. In order for basic, translational, and applied researchers to benefit from others' investigations, newly generated data must be made freely and easily accessible. MaizeGDB is the maize research community's central repository for genetics and genomics information. The overall goals of MaizeGDB are to facilitate access to the outcomes of maize research by integrating new maize data into the database and to support the maize research community by coordinating group activities.

scholarly journals P127 The role of the specialist cystic fibrosis pharmacist in embedding adherence monitoring of inhaled therapies into clinical care

2018 ◽  
Vol 17 ◽  
pp. S95
Author(s):  
C. Mckeown ◽  
S. Caskey ◽  
D.G. Downey ◽  
J. Rendall ◽  
C. Addy
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Care ◽  
Adherence Monitoring

Impact of Micro and Nano Sensors in Biomedical Measurement

2010 ◽  
Vol 437 ◽  
pp. 299-303
Author(s):  
Peter Rolfe
Keyword(s):  
Clinical Care ◽  
Basic Research ◽  
Surface Enhanced Raman Spectroscopy ◽  
New Drugs ◽  
Self Monitoring ◽  
Artificial Nose ◽  
Biomedical Measurement ◽  
Surface Enhanced Raman ◽  
Nano Sensors ◽  
The Impact

This paper reviews the ways in which micro and nano sensors have evolved within biology and medicine. The target measurands include an ever-increasing number of simple and complex molecules, physical quantities, and electrical and magnetic phenomena. Micro sensors based on electrochemical, acoustic, piezoelectric and optical principles are contributing to clinical care of patients who may benefit from the continuous monitoring of critical variables in intensive care or from the ability to perform convenient self-monitoring during normal daily life. Sensors constructed on the nano-scale are now emerging, especially for complex bio-molecules such as DNA. These are strengthening basic research, for example in the study of genetic factors in disease and for discovery of new drugs. Scanning probe technology and nano optics, including surface enhanced Raman spectroscopy, play important roles in these developments. Sensor science and technology has gained significant benefits through inspiration arising from biological sensory systems. This includes the sense of olfaction, which has led to the artificial nose, and the sense of vision that has been emulated in several versions of the artificial retina. The impact of micro and nano sensors on fundamental understanding in biomedicine and on clinical diagnosis and care are highlighted.

scholarly journals 226 A work load study to determine the proportion of time spent on delivering rescue vs. prevention clinical care in adults with cystic fibrosis

2014 ◽  
Vol 13 ◽  
pp. S104
Author(s):  
M. Lowther ◽  
R. Curley ◽  
S. Harrison ◽  
A. Jennings ◽  
M. Wildman
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Care ◽  
Work Load

scholarly journals Difference between SF6 and N2 multiple breath washout kinetics is due to N2 back diffusion and error in N2 offset

2018 ◽  
Vol 125 (4) ◽  
pp. 1257-1265 ◽  
Author(s):  
Lokesh Guglani ◽  
Ajay Kasi ◽  
Miah Starks ◽  
Knud E. Pedersen ◽  
Jørgen G. Nielsen ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Clinical Care ◽  
Back Diffusion ◽  
Healthy Controls ◽  
Lung Clearance ◽  
Routine Clinical Care ◽  
Lung Clearance Index ◽  
Multiple Breath Washout ◽  
In Series ◽  
Offset Error

Measurement of lung clearance index (LCI) by multiple breath washout (MBW) is a sensitive method for monitoring lung disease in patients with cystic fibrosis (CF). To compare nitrogen MBW (N2-MBW) and sulfur hexafluoride MBW (SF6-MBW), we connected these two gas analysis systems in series to obtain truly simultaneous measurements, with no differences other than the gas used. Nonsmoking healthy controls (HC) and subjects with CF were recruited at two institutions. The Exhalyzer-D (for N2-MBW measurement) was connected in series with the Innocor (for SF6-MBW measurement). Subjects washed in SF6 from a Douglas bag with tidal breathing and washed out SF6 and nitrogen with 100% oxygen provided as bias flow. Washout of both gases was continued past the LCI point (1/40th of equilibration concentration) in triplicate. N2-MBW resulted in higher cumulative exhaled volume, functional residual capacity (FRC), and LCI when compared with SF6-derived parameters in HC subjects ( P < 0.0001 for all comparisons). All N2-MBW parameters were also significantly higher than SF6-MBW parameters in subjects with CF ( P < 0.01 for all comparisons). After recalculation with a common FRC, N2-MBW LCI was higher than SF6-MBW LCI in subjects with CF (19.73 vs. 11.39; P < 0.0001) and in HC (8.12 vs. 6.78; P < 0.0001). Adjusting for N2 back diffusion and an offset error in the nitrogen measurement resulted in near complete agreement between the two methodologies. We found significant differences in LCI and FRC measurements using two different gases for MBW. This may have significant implications for the future use and interpretation of LCI data in clinical trials and routine clinical care. NEW & NOTEWORTHY This study provides important insights into the differences between the two techniques used for measuring lung clearance index (LCI): N2 and SF6 multiple breath washout. Differences between measurements made by these two methods in subjects with cystic fibrosis and healthy controls could be explained by nitrogen back diffusion and N2 offset error. This is important for use and interpretation of LCI data as an outcome measure for clinical trials and in routine clinical care.

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